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Gene: Rps12 MGI:98105

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Gene Summary

Name:
ribosomal protein S12
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rps12em1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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Human diseases caused by Rps12 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rps12 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... OMIM:619041
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... ORPHA:75564
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, B... ORPHA:318
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Intrauterine growth retardation, Hepatosplenomegaly, Pancytopenia, Splenomegaly... OMIM:610333
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Mega... ORPHA:859
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Intrauterin... ORPHA:2169
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo... OMIM:616435
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Primary Myelofibrosis
Abnormal bone marrow cell morphology, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytope... ORPHA:824
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Decreased CSF 5-methyltetr... OMIM:613839
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Pancytopenia OMIM:600546
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... OMIM:614742
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Maternal Uniparental Disomy Of Chromosome 1
Ventriculomegaly, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Single transverse pa... ORPHA:251009
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Bone Marrow Failure Syndrome 1
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia OMIM:614675
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... OMIM:614743
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Reduced natural killer cell activity, Pancy... OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Thrombocytopenia OMIM:166990
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... ORPHA:86843
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly OMIM:231000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased CSF protein concentration, Reduced natural killer cell count, Hemophagocytosis, Hepatos... ORPHA:158057
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Sterile abscess, ... OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... OMIM:619858
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Short thumb, Persistence of hemoglobin F, M... OMIM:612561
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Long fingers, Leukemia, Tapered fi... OMIM:614038
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... OMIM:617341
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean... ORPHA:2760
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... OMIM:617052
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula... OMIM:614172
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Hydrocephalu... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iil
Ventriculomegaly, Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impai... OMIM:614576
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o... OMIM:620367
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hepatic steatosis, Failure to thrive OMIM:617872
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Premature grayin... OMIM:127550
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Abnormality of r... ORPHA:858
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray... OMIM:619767
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... ORPHA:85212
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, In... OMIM:606003
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature gray... OMIM:613989
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Genu valgum, Hydrocephalus, Throm... OMIM:259710
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... OMIM:275350
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Pancytopenia, Decreased propor... ORPHA:101096
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Flared metaphysis, Pancytopenia, Splenomegaly, Hepatomegaly, Femur fracture, H... OMIM:259700
Majeed Syndrome
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... OMIM:609628
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased CSF protein concentration, Hemophagocytosis, Failure to thrive, Reduced natural killer ... OMIM:603553
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Reticulated skin pigmenta... OMIM:613987
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... OMIM:614700
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619302
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Failure to thrive, Panhypogammaglobulinemia, Lack of T cell function, Pan... ORPHA:572
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Bone marrow hypercellularity, Weight loss, Lymphadenopath... ORPHA:520
Bangstad Syndrome
Pancytopenia, Small for gestational age OMIM:210740
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly... OMIM:230800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo... ORPHA:86839
Dyskeratosis Congenita, Autosomal Dominant 6
Bone marrow hypocellularity, Intrauterine growth retardation, Pancytopenia, Aplastic anemia OMIM:616553
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hereditary Folate Malabsorption
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ... ORPHA:90045
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Absent thumb, Short thumb, Absent radius, Pancytopenia, Intrauterine... OMIM:227645
Schimke Immunoosseous Dysplasia
Hypermelanotic macule, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Pancytopenia, Ab... OMIM:242900
Propionic Acidemia
Failure to thrive, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Increased mean corpuscular volume, Short thumb, Intrauterine growth re... OMIM:612562
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613990
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Panhypogammaglobul... ORPHA:79124
Shwachman-Diamond Syndrome 1
Failure to thrive, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancrea... OMIM:260400
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Hyperpigmentat... OMIM:600901
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Hatipoglu Immunodeficiency Syndrome
Hyperpigmented/hypopigmented macules, Failure to thrive, Fair hair, Premature graying of hair, In... OMIM:620331
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia OMIM:613845
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal neutrophil morpho... ORPHA:86841
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Absent radius, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, T... OMIM:227650
Trichothiodystrophy 6, Nonphotosensitive
Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased mean corpuscular volum... OMIM:616943
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hepatitis, Hypopigmented sk... ORPHA:381
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Radial bowing, Ulnar bowing, Limited pronation/supination of forearm, Congenital... OMIM:605432
Dyskeratosis Congenita, Autosomal Recessive 3
Bone marrow hypocellularity, Pancytopenia, Abnormality of skin pigmentation OMIM:613988
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Clinodactyly, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypert... OMIM:613385
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Hepatosplenomegaly,... ORPHA:77259
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemoly... OMIM:611590
Osteopetrosis, Autosomal Recessive 5
Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Flared metaphysis, Hepatosplenomegaly... OMIM:259720
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Aplasia of the 1st metacarpal, Annular pancreas, Absent thumb, Short... OMIM:227646
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Pancytopenia, Vitiligo, Hypoplasia of the radius, Anemia, Cafe-au-lait... OMIM:613951
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Absent thumb, Persistence... ORPHA:124
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Reticular hyperpigm... OMIM:224230
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly OMIM:615938
Lig4 Syndrome
Failure to thrive, Pancytopenia, Thrombocytopenia, Clinodactyly of the 5th finger, Acute lymphobl... OMIM:606593
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Increased mean corpuscular volume, Colpocephaly, Thrombocytopenia, Proximal pla... ORPHA:261250
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Failure to thrive, Pancytopenia, Hepatomegaly, Talipes equinovarus, Megaloblastic anemia, Thrombo... OMIM:277380
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Absent thumb, Persistence of hemoglobin F, ... OMIM:105650
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... OMIM:620133
Lig4 Syndrome
Acute leukemia, Abnormal bone marrow cell morphology, Pancytopenia, Leukocytosis, Lymphadenopathy... ORPHA:99812
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat... ORPHA:300298
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Failure to thrive, Fair hair, Splenomegaly, Hydrocephalus, Hepatome... OMIM:269920
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly OMIM:615937
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Clinodactyly, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia, Hyperspl... ORPHA:228426
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopigmentation of th... ORPHA:167
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Aplastic anemia, Intrauterine growth re... OMIM:300514
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Seckel Syndrome 1
Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Intrauterine growth retarda... OMIM:210600
Spondyloenchondrodysplasia
Short distal phalanx of finger, Ventriculomegaly, Granuloma, Hepatitis, Pancytopenia, Vitiligo, A... ORPHA:1855
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, H... OMIM:619151
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule pigmentation of the retina, Hypochromia, P... OMIM:616959
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatom... OMIM:557000
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Livedoid Vasculopathy
Hyperpigmented streaks, Polycythemia, Pancytopenia, Leukocytosis, Hyperpigmentation of the skin, ... ORPHA:542643
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventriculomegaly, Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Brachydactyly... OMIM:620654
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Pearson Syndrome
Bone marrow hypocellularity, Pigmentary retinopathy, Abnormal bone marrow cell morphology, Exocri... ORPHA:699
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, D... ORPHA:99867
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hydrocephalus, Anemia ORPHA:163596
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Ventriculomegaly, Failure to thrive, Hepatocellular necrosis, He... OMIM:618278
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Castleman Disease
Myelofibrosis, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy,... ORPHA:160
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Pancytopenia ORPHA:309288
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Revesz Syndrome
Bone marrow hypocellularity, Aplastic anemia, Intrauterine growth retardation, Macrocytic anemia,... OMIM:268130
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Pancytopenia OMIM:607426
Gaucher Disease, Type Iiic
Hepatomegaly, Hydrocephalus, Pancytopenia, Splenomegaly OMIM:231005
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Umbilical hernia ORPHA:85321
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Melanocytic nevus, Hydrocephalus ORPHA:1008
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Megaloblastic bone marrow, Failure to thrive ORPHA:26
Mirage Syndrome
Radial club hand, Lymphopenia, Leukopenia, Intrauterine growth retardation, Overlapping fingers, ... OMIM:617053
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Aicardi-Goutieres Syndrome 7
Hepatitis, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Increa... OMIM:615846
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
1Q21.1 Microduplication Syndrome
Hydrocephalus, Talipes equinovarus, Failure to thrive ORPHA:250994
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice, Failure to thrive OMIM:129850
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Small hand, Hydrocephalus OMIM:300884
Fanconi Anemia, Complementation Group N
Aplastic anemia, Short thumb, Absent thumb, Acute myeloid leukemia, Hyperpigmentation of the skin... OMIM:610832
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polydactyly, Hydrocephalus, Leukemia, Syndactyly OMIM:602501
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Hydrocephalus, Anemia OMIM:617244
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Genu valgum, Abnormal leukocyte morphology, Abnormal metacarpal m... ORPHA:53
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Autoimmune thrombocytopenia, Failure to thrive OMIM:245200
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... ORPHA:77261
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Premature graying of hair, Pancytopenia, Leukopenia, Intrauterine gr... OMIM:305000
Gaucher Disease
Splenic infarction, Cholelithiasis, Ventriculomegaly, Hepatitis, Pancytopenia, Leukopenia, Spleno... ORPHA:355
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ventriculomegaly, Pancytopenia OMIM:618321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Ventriculomegaly, Abnormality of the spleen, Hepatosplenomegaly... ORPHA:2072
Adams-Oliver Syndrome
Short distal phalanx of finger, Failure to thrive, Finger syndactyly, Leukopenia, Absent hand, Po... ORPHA:974
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Cholestasis, Obesity, Genu valgum, Splenomegaly, Brachydactyl... OMIM:615630
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Aplastic anemia, Patellar hypoplasia, Metaphyseal sclerosis, Patell... ORPHA:221008
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Rothmund-Thomson Syndrome
Hypopigmentation of the skin, Aplastic anemia, Aplasia/Hypoplasia of the radius, Short thumb, Ret... ORPHA:2909
Mccune-Albright Syndrome
Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Abnormal femur morphology, Lar... ORPHA:562
Degcags Syndrome
Toe syndactyly, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia, Genu va... OMIM:619488
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Enlarged tonsils, Hepat... ORPHA:2785
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Aplastic anemia, Patellar hypoplasia, Metaphyseal sclerosis, Abnorm... ORPHA:221016
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Icf Syndrome
Umbilical hernia, Lymphopenia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils, D... ORPHA:2268
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb OMIM:303350
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis, R... OMIM:231095
Diencephalic Syndrome
Cachexia, Hydrocephalus, Large hands, Decreased body weight ORPHA:1672
Abcd Syndrome
Polycythemia, Large for gestational age, Neonatal death, White eyebrow, White eyelashes, Albinism OMIM:600501
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Failure to thrive, Cholestasis, Slender build, Intrauterine growth ret... OMIM:613658
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Umbilical hernia, Pre... ORPHA:380
Alpha-Mannosidosis, Infantile Form
Umbilical hernia, Hepatosplenomegaly, Pancytopenia, Genu valgum, Cortical thickening of long bone... ORPHA:309282
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Arachnodactyly, Hydroceph... ORPHA:2720
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody leve... OMIM:181000
Martin-Probst Syndrome
Pancytopenia, Umbilical hernia OMIM:300519
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Abnormal mast cell morphology ORPHA:398189
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Nasu-Hakola Disease
Ventriculomegaly, Acute leukemia, Hydrocephalus ORPHA:2770
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi... OMIM:619377
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Rocker bottom foot, Hypoplastic spleen, Adducted thumb ORPHA:89844
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Failure to thrive, Increased CSF lactate, Intrauterine growth retardation, Incr... OMIM:616034
Gracile Bone Dysplasia
Failure to thrive, Flared metaphysis, Brachydactyly, Hydrocephalus, Asplenia, Hypoplastic spleen OMIM:602361
Holoprosencephaly 5
Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph... OMIM:609637
B4Galt1-Cdg
Splenomegaly, Hydrocephalus, Hepatomegaly, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Hydrocephalus OMIM:619470
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con... ORPHA:447
Kleeblattschaedel
Elbow ankylosis, Hydrocephalus OMIM:148800
Temple Syndrome
Small hand, Clinodactyly, Intrauterine growth retardation, Obesity, Hydrocephalus, Truncal obesit... OMIM:616222
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Whipple Disease
Generalized hyperpigmentation, Splenomegaly, Hepatomegaly, Cachexia, Hydrocephalus, Anemia, Media... ORPHA:3452
Temple Syndrome
Small hand, Few cafe-au-lait spots, Obesity, Hydrocephalus, Clinodactyly of the 5th finger, Short... ORPHA:254516
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Intrauterine growth retardation, Decreased circ... OMIM:223370
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Lateral ventricle dilatation, Decreased circulating IgA level, S... OMIM:612301
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Fried Syndrome
Hydrocephalus ORPHA:85335
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Genu valgum, Pseudoepiphyses of hand bones, Talipes equinovarus, Hydrocephalus, Meta... OMIM:613330
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Clinodactyly of the 5th finger, Hydrocephalus, Umbilical hernia ORPHA:1516
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation... ORPHA:499009
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Biemond Syndrome Type 2
Obesity, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecysti... ORPHA:99827
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Thrombocytopenia ORPHA:1237
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Umbilical hernia, Obesity, Bowing of the long bones, Radioulnar synostosis, Hydro... ORPHA:171839
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Obesity, Hydrocephalus ORPHA:2183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Eisenmenger Syndrome
Increased mean corpuscular volume, Brain abscess, Abnormality of the liver, Iron deficiency anemi... ORPHA:97214
Congenital Muscular Dystrophy, Fukuyama Type
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Camptodactyly of finger ORPHA:272
Intellectual Developmental Disorder, Autosomal Dominant 39
Bilateral talipes equinovarus, Obesity, Hydrocephalus OMIM:616521
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Bilateral talipes equinovarus, Hydrocephalus OMIM:618174
Alexander Disease Type I
Hydrocephalus, Cachexia, Failure to thrive ORPHA:363717
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Triceps weakness, Abnormality of the hand, Hydrocephalus, Paresis of extens... ORPHA:99947
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Congenital Hydrocephalus
Ventriculomegaly, Colpocephaly, Hydrocephalus ORPHA:2185
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Failure to thrive, Hydrocephalus, Long fingers, Brushf... ORPHA:1895
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Sandal gap, Camptodactyly of finger, Single transverse palmar crease, 2-3 toe syndactyly, Hallux ... OMIM:619951
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial... OMIM:614120
Multiple Sulfatase Deficiency
Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Splenomegaly, H... OMIM:272200
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Absent thumb, Intrauterine growth retardation, Hydrocephalus, Absent... OMIM:614083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Hydrocephalus OMIM:614830
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Alexander Disease
Increased CSF protein concentration, Hydrocephalus OMIM:203450
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Sandal gap, Intrauterine growth retardation, Clinodactyl... ORPHA:235
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Micromelia, Encephalocele, Brachydactyly, Hydrocephalus, Holoprosencephaly, Abn... ORPHA:93274
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly, Clinodactyly OMIM:618577
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
6P22 Microdeletion Syndrome
Hydrocephalus, Finger syndactyly, Clinodactyly ORPHA:251046
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Postaxial foot polydactyly, Occipital... OMIM:607361
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Hypoglycorrhachia, Hepatosplenomegaly, Brachydactyl... ORPHA:168577
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Abn... ORPHA:505248
Thanatophoric Dysplasia
Ventriculomegaly, Micromelia, Intrauterine growth retardation, Brachydactyly, Hydrocephalus, Abno... ORPHA:2655
Proteus-Like Syndrome
Irregular hyperpigmentation, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Hydrocephalu... ORPHA:2969
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Intrauterine growth retardation, Brachydactyly,... ORPHA:1914
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Hyperpigmentation of the skin, Hallux valgus, Lymphadenopa... ORPHA:168569
Crouzon Syndrome With Acanthosis Nigricans
Melanocytic nevus, Hydrocephalus OMIM:612247
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Hypopigmented skin patches, Finger syndactyly, Wei... ORPHA:84
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Genu valgum, Hydrocephalus OMIM:248000
Acquired Aneurysmal Subarachnoid Hemorrhage
Increased CSF lactate, Leukocytosis, Hydrocephalus, Hyperglycorrhachia ORPHA:90065
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Multiple Sulfatase Deficiency
Broad thumb, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Hepatomegaly, Broa... ORPHA:585
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,... ORPHA:1908
Pallister-Hall-Like Syndrome
Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micromelia, Hydrocephalus, P... OMIM:241800
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Colpocephaly, Hydrocephalus... OMIM:619833
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Hydrocephalus, Clinoda... ORPHA:2635
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Hydrocephalus, Adducted thumb, Umbilical hernia ORPHA:2181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Toe syndactyly, Finger syndactyly, Failure to thrive, Hand polydactyly, Hydroce... ORPHA:60040
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Postaxial hand polydactyly ORPHA:83473
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Obesity, Hydrocephalus, Brachydactyly, Abnormality of skin pigmentation ORPHA:2180
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Distal shortening of limbs, ... OMIM:300863
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Short toe, Short finger, Intrauterine growth retardation, Bowing of the arm,... OMIM:269860
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Abnormality of retinal pigmentation, Split ha... OMIM:309900
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Failure to thrive, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia,... OMIM:277400
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Polysplenia, Abnormal tibia morphology, Absent gallbladder, Enc... ORPHA:1335
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Desmosterolosis
Ventriculomegaly, Micromelia, Failure to thrive, Intrauterine growth retardation, Splenomegaly, H... ORPHA:35107
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly, Small for gestational age, Failure to thrive OMIM:609757
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Intrauterine growth retardation, Brachydactyly, Thrombocytop... OMIM:147791
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Prominent fingertip pads OMIM:300558
Corpus Callosum, Partial Agenesis Of, X-Linked
Ventriculomegaly, Dislocated radial head, Hydrocephalus OMIM:304100
Melanosis, Neurocutaneous
Choroid plexus papilloma, Numerous congenital melanocytic nevi, Hydrocephalus, Dandy-Walker malfo... OMIM:249400
Bresek Syndrome
Postaxial hand polydactyly, Intrauterine growth retardation, Hydrocephalus, Neonatal death ORPHA:85284
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Carpal synostosis, Hydrocephalus, Short palm, ... ORPHA:53271
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly OMIM:220220
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia... OMIM:611134
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Drumstick terminal phalange... OMIM:612938
Primary Ciliary Dyskinesia
Ventriculomegaly, Polysplenia, Hydrocephalus, Asplenia, Clubbing ORPHA:244
Congenital Sialidosis Type 2
Umbilical hernia, Hepatosplenomegaly, Polydactyly, Hydrocephalus, Hepatomegaly ORPHA:93400
Chronic Graft Versus Host Disease
Pancytopenia, Weight loss, Abnormality of skin pigmentation ORPHA:99921
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Portal hypertension, Splenomegaly, Congenital hepatic fibrosis, Intrahep... ORPHA:1454
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Absent gallbladder, Bulbous tips of toes, 2-3 toe syndactyly,... ORPHA:163979
Coccidioidomycosis
Increased CSF protein concentration, Granuloma, Hypoglycorrhachia, Abnormality of the spleen, Abn... ORPHA:228123
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... ORPHA:2437
Triploidy
Finger syndactyly, Intrauterine growth retardation, Abnormality of the gallbladder, Hydrocephalus... ORPHA:3376
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Intrauterine growth... ORPHA:163966
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613153
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus, Abnormality of retinal pigmentation ORPHA:397951
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Brachydactyly, Abnormality of the elbow ORPHA:2701
Houge-Janssens Syndrome 2
Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus OMIM:616362
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Absent distal phalanges, Single transverse palmar crease, Hydroceph... OMIM:614219
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormality of the liver, Hydrocephalus ORPHA:1834
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Failure to thrive, Intrauterine growth retardation, Megaloblastic anemia,... ORPHA:79282
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Hydrocephalus, Congenital hepatic fibrosis OMIM:619111
Crouzon Syndrome
Hydrocephalus, Melanocytic nevus, Hypopigmented skin patches ORPHA:207
Hurler Syndrome
Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Hypoplasia of the femoral head, Hepatomegaly,... OMIM:607014
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Hydrocephalus, Stillbirth, Aqueductal stenosis OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Abnormal metacarpal morphology, Brachydactyly ORPHA:93262
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Leukemia, Small for gestational... OMIM:257300
Alkuraya-Kucinskas Syndrome
Hand clenching, Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equ... OMIM:617822
Ciliary Dyskinesia, Primary, 53
Dilated fourth ventricle, Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation, Syndactyly OMIM:220210
Achondroplasia
Rhizomelia, Obesity, Limited elbow extension, Trident hand, Limb undergrowth, Short proximal phal... ORPHA:15
Tetrasomy 5P
Failure to thrive, Overlapping toe, Talipes equinovarus, Short hallux, Hydrocephalus, Long finger... ORPHA:3309
Houge-Janssens Syndrome 1
Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus OMIM:616355
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Genu valgum, Splenomegaly, Talipes equinovarus, Hydrocephalus, Metatarsus adduc... OMIM:253220
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Long hallux, Intrauterine growth retardation, Cone-shaped epiphyses of... OMIM:101800
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Umbilical hernia, Hydrocephalus, Broad toe, Short 2nd toe, Clinodactyly o... OMIM:612582
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Ventriculomegaly, Finger syndactyly, Hypopigmented skin patches, ... ORPHA:1647
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Emanuel Syndrome
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker... OMIM:609029
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... ORPHA:2839
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Multiple lentigines, Splenomegaly, Cubitus valgus, Deep palmar crease, Hyperpi... OMIM:115150
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Single transverse palmar creas... OMIM:617866
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb ORPHA:2182
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus ORPHA:370959
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Dilated third ventricle, Lateral ventricle dilata... OMIM:620371
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intrauterine growth retardation, Genu valgum, Leukocytosis, Hepatic steatosis, Hydrocephalus, Gen... OMIM:619321
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,... OMIM:602200
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Hydrocephalus, Intrauterine growth retardation, Failure to thrive OMIM:612940
Hurler Syndrome
Abnormal diaphysis morphology, Camptodactyly of finger, Splenomegaly, Abnormality of the tonsils,... ORPHA:93473
Tetrasomy 15Q26
Intrauterine growth retardation, Arachnodactyly, Hydrocephalus, Camptodactyly, Dandy-Walker malfo... OMIM:614846
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Fg Syndrome Type 1
Ventriculomegaly, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Slender bu... ORPHA:93932
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Adducted thumb, Thumb contracture OMIM:307000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Thanatophoric Dysplasia Type 1
Ventriculomegaly, Micromelia, Femoral bowing, Bowing of the long bones, Split hand, Brachydactyly... ORPHA:1860
Dextrocardia
Hydrocephalus, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hypoplasia ORPHA:1666
Stromme Syndrome
Accessory spleen, Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Emanuel Syndrome
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker... ORPHA:96170
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, Bowing of the ... OMIM:249000
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Encephalocele, Bowing of the long bones, Adducted thum... OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive OMIM:620157
Meckel Syndrome
Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocele, Congenita... ORPHA:564
Mucopolysaccharidosis Type 1
Splenomegaly, Hydrocephalus, Split hand, Abnormality of the tonsils, Abnormal metaphysis morphology ORPHA:579
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Thanatophoric Dysplasia, Type I
Flared metaphysis, Femoral bowing, Neonatal death, Bowing of the long bones, Hydrocephalus, Metap... OMIM:187600
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Obesity, Hydrocephalus OMIM:601794
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation OMIM:310400
1Q21.1 Microdeletion Syndrome
Broad thumb, Toe syndactyly, Failure to thrive, Intrauterine growth retardation, Clinodactyly of ... ORPHA:250989
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Ventriculomegaly, Intrauterine growth retardation, Hydrocephalus, Dandy-Walker m... OMIM:225790
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Si... OMIM:612651
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Failure to thrive, Carpal synostosis, Myelomeningo... ORPHA:90652
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... ORPHA:93259
Nephronophthisis 18
Cholestasis, Portal fibrosis, Hydrocephalus OMIM:615862
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Meckel Syndrome, Type 6
Hepatic fibrosis, Postaxial foot polydactyly, Occipital encephalocele, Absent gallbladder, Hepati... OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 65
Single transverse palmar crease, Short palm, Clinodactyly of the 5th finger, Short foot, Noncommu... OMIM:619320
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Intrauterine growth retardation, Abnormality of the gallbladder, B... ORPHA:2075
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Dilated third ventricle, Ventriculomegaly, Failure to thrive, Hydrocephalus, Short fo... ORPHA:500055
Chromosome 6Q24-Q25 Deletion Syndrome
Small hand, Sandal gap, Prominent fingertip pads, Lateral ventricle dilatation, Intrauterine grow... OMIM:612863
Lowry-Maclean Syndrome
Intrauterine growth retardation, Abnormality of the abdominal organs, Hydrocephalus, Single trans... ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Hydrocephalus, Coxa valga OMIM:109120
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Bowing of the long bones, Hepatomegaly, Lymphadenopathy, Hydrocephalus, Anemia, Abn... ORPHA:667
Hyperparathyroidism, Transient Neonatal
Ventriculomegaly, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Splenic cyst, Communicatin... OMIM:618188
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Brain abscess, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Arachnodactyly, Hallux va... OMIM:613776
Trisomy 17P
Clinodactyly of the 5th finger, Intrauterine growth retardation, Hydrocephalus, Tapered finger ORPHA:261290
Marfanoid-Progeroid-Lipodystrophy Syndrome
Intrauterine growth retardation, Melanocytic nevus, Arachnodactyly, Hydrocephalus, Long fingers, ... OMIM:616914
22Q11.2 Deletion Syndrome
Cholelithiasis, Failure to thrive, Impaired T cell function, Umbilical hernia, Hypopigmented skin... ORPHA:567
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
3C Syndrome
Ventriculomegaly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Brachydactyly, Dandy-Walker... ORPHA:7
Aase-Smith Syndrome I
Slender finger, Talipes equinovarus, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Large Congenital Melanocytic Nevus
Hydrocephalus, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of ski... ORPHA:626
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus, Abnormality of the pancreas ORPHA:1926
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hydrocephalus, Decreased body weight OMIM:614886
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Umbilical hernia, Genu valgum, Splenomegaly, Split hand, Metaphyseal widenin... OMIM:253200
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Adducted thumb ORPHA:275543
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Multilobulated spleen, Hypoplastic spleen, Neonatal death OMIM:601186
Distal Triplication 15Q
Intrauterine growth retardation, Large for gestational age, Arachnodactyly, Hydrocephalus, Campto... ORPHA:314588
Cousin Syndrome
Hydranencephaly, Joint contracture of the hand, Rhizomelia, Dislocation of the femoral head, Fibu... OMIM:260660
Trisomy 1Q
Ventriculomegaly, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodact... ORPHA:261344
Hydrolethalus
Hydrocephalus, Anencephaly, Micromelia, Postaxial hand polydactyly ORPHA:2189
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Elbow dislocation, Short ... ORPHA:1106
Holoprosencephaly
Spinal dysraphism, Failure to thrive in infancy, Abnormality of the spleen, Branchial anomaly, En... ORPHA:2162
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive OMIM:231670
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus OMIM:218350
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micromelia, Clubbing of fingers, Encephalocele, Talipes equinovarus, Limb undergrowth, Hydrocepha... ORPHA:1865
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Palmoplantar keratoderma, Umbilical hernia, Melanocytic nevus, Hydrocephalus, Palmoplantar cutis ... ORPHA:1555
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Hydrocephalus, Absent radius, Proximal placement... OMIM:314390
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly OMIM:620156
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Small hand, Bilateral single transverse palmar creases, Hydrocephalus, Camptodactyly, Dandy-Walke... ORPHA:459061
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Ventriculomegaly, Hydrocephalus OMIM:603387
Joubert Syndrome 2
Postaxial foot polydactyly, Enlarged fossa interpeduncularis, Failure to thrive, Encephalocele, H... OMIM:608091
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Hypopigmentation of the skin, Hydrocephalus, Single transverse palmar crease OMIM:614969
Monosomy 18Q
Failure to thrive, Slender build, Decreased circulating IgA level, Arachnodactyly, Talipes equino... ORPHA:1600
Ciliary Dyskinesia, Primary, 1
Asplenia, Communicating hydrocephalus OMIM:244400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Rhizomelia, Sandal gap, Flared metaphysis, Elbow flexion contracture, Bilate... OMIM:245600
Rhombencephalosynapsis
Ventriculomegaly, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complet... ORPHA:59315
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, 2-3 toe syndactyly, Brachydactyly, Hydrocephalus, Decreased circula... OMIM:618162
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Failure to thrive, Short to... ORPHA:955
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Abdominal situs inversus, Polysplenia, Myelomeningocele, Biliary atresia, Aque... OMIM:306955
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Failure to thrive in infancy, Multiple lentigines, Generalized hyperpig... ORPHA:1340
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... OMIM:100800
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Recurrent tonsillitis, Ventriculomegaly, Umbilical hernia, Avascular necr... ORPHA:581
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele ORPHA:2318
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Intrauterine growth retardat... ORPHA:314585
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis... ORPHA:95699
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Cirrhosis, Hepatomegaly, Holopros... OMIM:270400
Joubert Syndrome
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele ORPHA:475
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Hydrocephalus, Metaphyseal widening, ... OMIM:618476
Osteogenesis Imperfecta
Rhizomelia, Calcification of the interosseus membrane of the forearm, Ventriculomegaly, Micromeli... ORPHA:666
Radial Aplasia, X-Linked
Hydrocephalus, Absent radius OMIM:312190
Joubert Syndrome With Ocular Defect
Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele ORPHA:220493
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, Congenital finger flexion contractures, Scapular winging, Neonatal... OMIM:620351
Cockayne Syndrome A
Pigmentary retinopathy, Ventriculomegaly, Failure to thrive, Retinal pigment epithelial mottling,... OMIM:216400
Wolf-Hirschhorn Syndrome
Accessory spleen, Pseudoepiphyses of the metacarpals, Ventriculomegaly, Failure to thrive, Short ... OMIM:194190
Joubert Syndrome With Renal Defect
Hydrocephalus, Hand polydactyly, Encephalocele ORPHA:220497
Cryptococcosis
Peritonitis, Cirrhosis, Hydrocephalus, Lymphoid leukemia, Mediastinal lymphadenopathy ORPHA:1546
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Prominent fingertip pads, Umbilical her... OMIM:305450
Cockayne Syndrome B
Pigmentary retinopathy, Failure to thrive, Ivory epiphyses of the phalanges of the hand, Intraute... OMIM:133540
Marshall-Smith Syndrome
Slender finger, Short distal phalanx of finger, Ventriculomegaly, Failure to thrive, Prominent fi... OMIM:602535
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Short toe, Hydrocephalus, Delayed ossification of carpal bones, T... OMIM:239300
Apert Syndrome
Broad distal phalanx of the thumb, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Ve... OMIM:101200
Walker-Warburg Syndrome
Hydrocephalus, Ventriculomegaly, Metatarsus valgus, Dandy-Walker malformation ORPHA:899
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus OMIM:614195
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hydrocephalus OMIM:620155
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Umbilical hernia, Genu valgum, Arachnodactyly, Talipes equinovarus... OMIM:182212
Hemangioblastoma
Hydrocephalus ORPHA:252054
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Encephalocele, 2-3 toe syndactyly, Hydrocephalus, Postaxial hand poly... OMIM:264480
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus OMIM:615219
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Inguinal freckling, Hypopigmented skin patches, Melanocytic nevus, ... ORPHA:636
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Peho Syndrome
Ventriculomegaly, Hydrocephalus, Tapered finger ORPHA:2836
Desmosterolosis
Ventriculomegaly, Joint contracture of the hand, Rhizomelia, Failure to thrive, Hydrocephalus, Bi... OMIM:602398
Apert Syndrome
Ventriculomegaly, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia ... ORPHA:87
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Ventriculomegaly, Sandal gap, Abnormal fibula morphology ORPHA:1812
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Hydrocephalus, Camptodacty... OMIM:207410
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact... OMIM:154400
Trisomy 8P
Short fifth metatarsal, Annular pancreas, Clinodactyly of the 2nd finger, Short 1st metacarpal, C... ORPHA:264450
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Failure to thrive, Fibular aplasia, Clinodactyly of the 5th finger... OMIM:300373
Pettigrew Syndrome
Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:304340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilatation, Bowing of the long bones, L... OMIM:210710
Hydrolethalus Syndrome 1
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Intrauterine growth retardat... OMIM:236680
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flared metaphysis, Dislocation of the femoral head, Genu valgum, Brachydactyly, Hydrocephalus, Me... OMIM:616007
Mend Syndrome
Failure to thrive, Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Spotty... ORPHA:401973
Mend Syndrome
Failure to thrive, Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe synda... OMIM:300960
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Monosomy 9Q22.3
Palmar pits, Ventriculomegaly, Umbilical hernia, Large for gestational age, Polydactyly, Hydrocep... ORPHA:77301
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus ORPHA:238769
Fetal Akinesia Deformation Sequence 1
Camptodactyly of finger, Small placenta, Ulnar deviation of the hand or of fingers of the hand, I... OMIM:208150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Pigmentary retinopathy, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Basal Cell Nevus Syndrome 2
Palmar pits, Hydrocephalus OMIM:620343
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Lateral ventricle dilatation, Genu valgum, Cubitus valgus, Metatarsus adductus, Norma... ORPHA:300570
Shprintzen-Goldberg Syndrome
Ventriculomegaly, Failure to thrive, Elbow dislocation, Umbilical hernia, Camptodactyly of finger... ORPHA:2462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Ventriculomegaly, Encephalocele, Hydrocephalus, Adducted thumb, Dandy-Walker malformation OMIM:614643
Alexander Disease
Hyperpigmented nevi, Aqueductal stenosis, Failure to thrive, Hydrocephalus ORPHA:58
Campomelic Dysplasia
Spinal dysraphism, Short 1st metacarpal, Failure to thrive, Patellar hypoplasia, Shortening of al... OMIM:114290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Koolen-De Vries Syndrome Due To A Point Mutation
Ventriculomegaly, Hypopigmentation of the skin, Prominent fingertip pads, Fair hair, Slender buil... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Ventriculomegaly, Hypopigmentation of the skin, Prominent fingertip pads, Fair hair, Slender buil... ORPHA:363958
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Hydrocephalus ORPHA:3042
Kabuki Syndrome 1
Short 5th finger, Prominent fingertip pads, Lateral ventricle dilatation, Hydrocephalus, Autoimmu... OMIM:147920
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida... ORPHA:63259
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventriculomegaly, Hypopigmentation of the skin, Failure to thrive, Intrauterine growth retardatio... OMIM:619475
Cole-Carpenter Syndrome
Bowing of the long bones, Intrauterine growth retardation, Abnormal metaphysis morphology, Commun... ORPHA:2050
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Abnormality of the... ORPHA:2369
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
47,Xyy Syndrome
Hydrocephalus, Finger clinodactyly ORPHA:8
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Umbilical hernia OMIM:601499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Hydrocephalus, Holoprosencephaly, Encephalocele OMIM:253800
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Tenorio Syndrome
Ventriculomegaly, Hydrocephalus OMIM:616260
Orofaciodigital Syndrome I
Hepatic fibrosis, Clinodactyly, Radial deviation of finger, Myelomeningocele, Hepatic cysts, Poly... OMIM:311200
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Failure to thrive, Aqueductal stenosis, Hydrocephalus, Long fingers, Bilateral talipes equinovaru... OMIM:619512
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Hydrocephalus, Numerous pigmented freckles ORPHA:220295
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Short 4th metacarpal, Brachydactyly,... OMIM:109400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Ventriculomegaly, Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly,... OMIM:616546
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dysplasia of the femoral head, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Bowing... ORPHA:536467
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
7Q11.23 Microduplication Syndrome
Ventriculomegaly, Obesity, Single transverse palmar crease, Cubitus valgus, Hydrocephalus, Long f... ORPHA:96121
Arachnoid Cyst
Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele ORPHA:2356
Arachnoiditis
Hydrocephalus ORPHA:137817
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Failure to thrive ORPHA:395
Raine Syndrome
Micromelia, Long hallux, Neonatal death, Bowing of the long bones, Brachydactyly, Hydrocephalus OMIM:259775
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Overlapping toe, Limited elbow extension, Palmoplantar cutis laxa, Hydrocephalus OMIM:123790
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation OMIM:613001
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Dilated third ventricle, Lateral ventricle dilatation, Failure to thrive, Hydrocephalus, Overweight OMIM:619575
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus ORPHA:77298
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Talipes equinovarus, Ventriculomegaly, Hydrocephalus, Tapered finger OMIM:613603
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Clinodactyly, Intrauterine growth retardation, Short humerus, Hypoplasia of th... OMIM:264090
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Ventriculomegaly, Hydrocephalus OMIM:219730
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hydrocephalus, Hypoplasia of the radius, Spina bifida, Aqueducta... ORPHA:3412
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Hajdu-Cheney Syndrome
Foot acroosteolysis, Failure to thrive, Umbilical hernia, Genu valgum, Fibular bowing, Crowded ca... OMIM:102500
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow f... OMIM:268300
Cerebrooculonasal Syndrome
Ventriculomegaly, Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly... OMIM:605627
Marden-Walker Syndrome
Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Arachnodactyly, Radi... ORPHA:2461
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Hydrocephalus, Umbilical hernia OMIM:104350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Ventriculomegaly, Encephalocele OMIM:613150
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly... OMIM:619895
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Neurofibromatosis, Type I
Inguinal freckling, Tibial pseudarthrosis, Genu valgum, Multiple cafe-au-lait spots, Spina bifida... OMIM:162200
Gorlin Syndrome
Palmar pits, Melanocytic nevus, Arachnodactyly, Brachydactyly, Hydrocephalus ORPHA:377
Aymé-Gripp Syndrome
Ventriculomegaly, Reduced arm span, Radioulnar synostosis, Hydrocephalus, Camptodactyly, Clinodac... ORPHA:1272
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Hepatic steatosis, Hepatic calcification, Hydrocephalus, Hepatomegaly ORPHA:228308
Crouzon Syndrome
Hydrocephalus OMIM:123500
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Lateral ventricle dilatation, Cholestasis, Congenital hepatic fibrosis, Neonatal dea... OMIM:619534
Kabuki Syndrome
Short 5th finger, Small hand, Ventriculomegaly, Failure to thrive, Obesity, Hydrocephalus, Short ... ORPHA:2322
Focal Dermal Hypoplasia
Toe syndactyly, Foot polydactyly, Short metacarpal, Hypopigmentation of the skin, Myelomeningocel... OMIM:305600
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Fraser Syndrome 3
Hydrocephalus, Cutaneous syndactyly, Short toe, Stillbirth OMIM:617667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf... OMIM:236670
Medulloblastoma
Abnormal bone marrow cell morphology, Hydrocephalus ORPHA:616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Ventriculomegaly, Hydrocephalus OMIM:616538
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equinovarus, Men... OMIM:600145
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:217090
Yunis-Varon Syndrome
Absent thumb, Short toe, Aplasia of the distal phalanx of the hallux, Shortening of all distal ph... ORPHA:3472
Baller-Gerold Syndrome
Radial deviation of the hand, Absent thumb, Forearm undergrowth, Patellar hypoplasia, Carpal syno... OMIM:218600
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Hepatic calcification ORPHA:157
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Failure to thrive, Umbilical hernia, Intrauterine growth retardat... OMIM:612289
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Broad thumb, Polysplenia, Umbilical hernia, Short finger, Splenom... OMIM:312870
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly ORPHA:2166
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hydrocephalus, Lymphadenopat... ORPHA:538
Costello Syndrome
Ventriculomegaly, Failure to thrive, Limited elbow movement, Talipes equinovarus, Deep palmar cre... OMIM:218040
Mucopolysaccharidosis Type 2
Umbilical hernia, Abnormality of retinal pigmentation, Splenomegaly, Hepatomegaly, Enlarged tonsi... ORPHA:580
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Noncommunicating hydrocephalus OMIM:618699
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Townes-Brocks Syndrome 1
Broad thumb, Small for gestational age, Umbilical hernia, Preaxial hand polydactyly, 3-4 toe synd... OMIM:107480
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Knobloch Syndrome
Lymphangioma, Occipital encephalocele, Hydrocephalus ORPHA:1571
Glutaryl-Coa Dehydrogenase Deficiency
Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules ORPHA:25
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Tetraamelia Syndrome 1
Asplenia, Hydrocephalus OMIM:273395
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydactyly, Short palm, Hy... ORPHA:2658
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Hydrocephalus ORPHA:2306
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Microphthalmia With Linear Skin Defects Syndrome
Hypopigmented skin patches, Failure to thrive, Abnormality of retinal pigmentation, Hyperpigmenta... ORPHA:2556
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodactyly of toe, Hydrocephalus, ... ORPHA:261337
Peters-Plus Syndrome
Rhizomelia, Ventriculomegaly, Short toe, Umbilical hernia, Intrauterine growth retardation, Clino... OMIM:261540
Neurooculorenal Syndrome
Ventriculomegaly, Short 1st metacarpal, Talipes equinovarus, Short hallux, Hydrocephalus, Aqueduc... OMIM:620305
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Thakker-Donnai Syndrome
Intrauterine growth retardation, Communicating hydrocephalus ORPHA:1780
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Ventriculomegaly, Broad hallux, Postaxial polydactyly, Hydrocephalus, Clinodactyly of the 5th finger ORPHA:457284
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Ventriculomegaly, Large for gestational age, Arachnodactyly, Large hands, Communicating hydroceph... OMIM:617011
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Failure to thrive ORPHA:137675
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Hydrocephalus, Short palm ORPHA:268249
Lhermitte-Duclos Disease
Hand polydactyly, Hydrocephalus ORPHA:65285
Sturge-Weber Syndrome
Heterochromia iridis, Hydrocephalus ORPHA:3205
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Tetrasomy 9P
Small hand, Umbilical hernia, Intrauterine growth retardation, Clinodactyly of the 5th finger, Ab... ORPHA:3310
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Pigmentary retinopathy, Hydrocephalus, Single transverse palmar crease OMIM:309801
Craniopharyngioma
Obesity, Hydrocephalus ORPHA:54595
Full Nf2-Related Schwannomatosis
Hyperpigmentation of the skin, Myelopathy, Hydrocephalus ORPHA:637
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus OMIM:175780
Fraser Syndrome 1
Myelomeningocele, Cutaneous finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb, Hy... OMIM:219000
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Abnormality of the lymphatic system ORPHA:137667
Acrofacial Dysostosis, Cincinnati Type
Ventriculomegaly, Failure to thrive, Intrauterine growth retardation, Femoral bowing, Single tran... OMIM:616462
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Failure to thrive, Camptodactyly of finger, Slender build, Intrauterine g... ORPHA:3455
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Occipital... OMIM:610829
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Ventriculomegaly, Slender build, Large for gestational age, Arachnodactyly, Communicating hydroce... ORPHA:457359
Peters Plus Syndrome
Rhizomelia, Toe syndactyly, Ventriculomegaly, Short toe, Micromelia, Umbilical hernia, Intrauteri... ORPHA:709
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal... OMIM:615287
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus OMIM:313850
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Granuloma, Abnormal tibia morphology, Genu valgum, Hydrocephalus, Large hands... ORPHA:363700
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fifth metatarsal, Slender finger, Short finger, Intrauterine growth retardation, Single tra... OMIM:619841
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Absent distal phalanges, Arachnodactyly, Talipes... OMIM:610168
Semilobar Holoprosencephaly
Hydrocephalus, Failure to thrive, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Failure to thrive, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Failure to thrive, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Failure to thrive, Neural tube defect ORPHA:93924
Meningioma
Obesity, Hydrocephalus ORPHA:2495
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Lateral ventricle dilatation, Camptodactyly of finger, Obesity, Brachydactyly, ... OMIM:607872
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Hepatic cysts, Hypomelanotic macule, Subependymal nodules, Noncom... ORPHA:805
Loeys-Dietz Syndrome 1
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydac... OMIM:609192
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Short thumb, Failure to thrive, Radioulnar synostosis, Cutaneous syn... OMIM:619325
Oeis Complex
Myelomeningocele, Talipes equinovarus, Hydrocephalus OMIM:258040
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Hydrocephalus OMIM:253280
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Craniofacial Microsomia 1
Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, Hy... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rps12

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rps12.

No publications found that use IMPC mice or data for Rps12.

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MGI Allele Allele Type Produced
Rps12em1(IMPC)Mbp Exon Deletion Mice, Tissue

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